A Compound Heterozygous HPD Mutation in an Iranian Patient with Hypertyrosinemia Type III

Background and Aims: Hypertyrosinemia type ۳ (HT۳) is an inherited error in tyrosine metabolism caused by a mutation in the ۴-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. Materials and Methods: The proband was one and half-year-old Iranian girl who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. In this study, we used Whole-Exome Sequencing to identify the genetic reason for the disease and the funded mutation confirmed by Sanger sequencing. Results and Conclusion: Through whole-exome sequencing screening of heterozygotes c.۴۱۳C>T (p.T۱۳۸M) and c.۷۵G.A (p.W۲۵Ter) in the HPD gene and genetically confirmed by Sanger sequencing. There were heterozygous conditions c.۴۱۳C>T (p.T۱۳۸M) and c.۷۵G.A (p.W۲۵Ter) in father and mother respectively. This mutation in her parents was also confirmed by Sanger sequencing.

کلیدواژه ها:

Hypertyrosinemia ، Mutation ، Whole exome sequencing